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Aliases for TPO Gene

Aliases for TPO Gene

  • Thyroid Peroxidase 2 3
  • EC 1.11.1.8 4 63
  • TDH2A 3 6
  • TPX 3 6
  • Thyroid Microsomal Antigen 3
  • Thyroperoxidase 3
  • EC 1.11.1 63
  • MSA 3

External Ids for TPO Gene

Previous GeneCards Identifiers for TPO Gene

  • GC02P001422
  • GC02P001360

Summaries for TPO Gene

Entrez Gene Summary for TPO Gene

  • This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011]

GeneCards Summary for TPO Gene

TPO (Thyroid Peroxidase) is a Protein Coding gene. Diseases associated with TPO include thyroid dyshormonogenesis 2a and congenital hypothyroidism, tpo-related. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include calcium ion binding and peroxidase activity. An important paralog of this gene is MPO.

UniProtKB/Swiss-Prot for TPO Gene

  • Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4)

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPO Gene

Genomics for TPO Gene

Regulatory Elements for TPO Gene

Transcription factor binding sites by QIAGEN in the TPO gene promoter:

Genomic Location for TPO Gene

Start:
1,374,223 bp from pter
End:
1,543,711 bp from pter
Size:
169,489 bases
Orientation:
Plus strand

Genomic View for TPO Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TPO Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPO Gene

Proteins for TPO Gene

  • Protein details for TPO Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07202-PERT_HUMAN
    Recommended name:
    Thyroid peroxidase
    Protein Accession:
    P07202
    Secondary Accessions:
    • P09934
    • P09935
    • Q8IUL0
    • Q8NF94
    • Q8NF95
    • Q8NF96
    • Q8NF97
    • Q8TCI9

    Protein attributes for TPO Gene

    Size:
    933 amino acids
    Molecular mass:
    102963 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Note=Binds 1 Ca(2+) ion per heterodimer.;
    Cofactor:
    Name=heme b; Xref=ChEBI:CHEBI:60344; Note=Binds 1 heme b (iron(II)-protoporphyrin IX) group covalently per heterodimer.;
    Quaternary structure:
    • Interacts with DUOX1, DUOX2 and CYBA.

    Alternative splice isoforms for TPO Gene

neXtProt entry for TPO Gene

Proteomics data for TPO Gene at MOPED

Post-translational modifications for TPO Gene

  • Cleaved in its N-terminal part
  • Glycosylated
  • Heme is covalently bound through a H(2)O(2)-dependent autocatalytic process. Heme insertion is important for the delivery of protein at the cell surface
  • Ubiquitination at Lys879
  • Glycosylation at Asn129, Asn307, Asn342, and Asn569
  • Modification sites at PhosphoSitePlus

Domains for TPO Gene

Graphical View of Domain Structure for InterPro Entry

P07202

UniProtKB/Swiss-Prot:

PERT_HUMAN :
  • P07202
Domain:
  • Contains 1 EGF-like domain.
  • Contains 1 Sushi (CCP/SCR) domain.
Family:
  • Belongs to the peroxidase family. XPO subfamily.
genes like me logo Genes that share domains with TPO: view

No data available for Gene Families for TPO Gene

Function for TPO Gene

Molecular function for TPO Gene

GENATLAS Biochemistry: thyroid peroxidase,thyroid hormone synthesis (iodide organification) and metabolism pathway
UniProtKB/Swiss-Prot CatalyticActivity: 2 iodide + H(2)O(2) + 2 H(+) = 2 iodine + 2 H(2)O
UniProtKB/Swiss-Prot CatalyticActivity: [Thyroglobulin]-L-tyrosine + iodide + H(2)O(2) = [thyroglobulin]-3-iodo-L-tyrosine + 2 H(2)O
UniProtKB/Swiss-Prot CatalyticActivity: [Thyroglobulin]-3-iodo-L-tyrosine + iodide + H(2)O(2) = [thyroglobulin]-3,5-diiodo-L-tyrosine + 2 H(2)O
UniProtKB/Swiss-Prot CatalyticActivity: 2 [thyroglobulin]-3,5-diiodo-L-tyrosine + H(2)O(2) = [thyroglobulin]-L-thyroxine + [thyroglobulin]-aminoacrylate + 2 H(2)O
UniProtKB/Swiss-Prot CatalyticActivity: [Thyroglobulin]-3-iodo-L-tyrosine + [thyroglobulin]-3,5-diiodo-L-tyrosine + H(2)O(2) = [thyroglobulin]-3,5,3-triiodo-L-thyronine + [thyroglobulin]-aminoacrylate + 2 H(2)O
UniProtKB/Swiss-Prot Function: Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4)

Enzyme Numbers (IUBMB) for TPO Gene

Gene Ontology (GO) - Molecular Function for TPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004447 iodide peroxidase activity IEA --
GO:0004601 peroxidase activity TAS 3475693
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding --
GO:0020037 heme binding IEA --
genes like me logo Genes that share ontologies with TPO: view
genes like me logo Genes that share phenotypes with TPO: view

miRNA for TPO Gene

miRTarBase miRNAs that target TPO

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for TPO Gene

Localization for TPO Gene

Subcellular locations from UniProtKB/Swiss-Prot for TPO Gene

Membrane; Single-pass type I membrane protein.
Isoform 3: Cell surface.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TPO Gene COMPARTMENTS Subcellular localization image for TPO gene
Compartment Confidence
plasma membrane 4
cytosol 2
endoplasmic reticulum 2
extracellular 2
golgi apparatus 2
mitochondrion 2
nucleus 2
lysosome 1

Gene Ontology (GO) - Cellular Components for TPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005739 mitochondrion IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2548579
GO:0009986 cell surface IEA --
genes like me logo Genes that share ontologies with TPO: view

Pathways for TPO Gene

genes like me logo Genes that share pathways with TPO: view

UniProtKB/Swiss-Prot P07202-PERT_HUMAN

  • Pathway: Hormone biosynthesis; thyroid hormone biosynthesis

Gene Ontology (GO) - Biological Process for TPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006590 thyroid hormone generation TAS --
GO:0006979 response to oxidative stress IEA --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0035162 embryonic hemopoiesis IDA 21149635
GO:0042446 hormone biosynthetic process IEA --
genes like me logo Genes that share ontologies with TPO: view

Compounds for TPO Gene

(14) HMDB Compounds for TPO Gene

Compound Synonyms Cas Number PubMed IDs
2-Aminoacrylic acid
  • Dehydroalanine
Not Available
3,5-Diiodo-L-tyrosine
  • 3,5-Diiodotyrocine
300-39-0
Calcium
  • Ca
7440-70-2
Heme
  • (protoporphyrinato)iron
14875-96-8
Hydrogen peroxide
  • Hydrogen peroxide
7722-84-1

(4) Drugbank Compounds for TPO Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Carbimazole
  • Athyromazole
22232-54-8 target inhibitor
Dextrothyroxine
51-49-0 target
Methimazole
  • Mercaptazole
60-56-0 target inhibitor
Propylthiouracil
  • Procasil
51-52-5 target inhibitor

(81) Novoseek inferred chemical compound relationships for TPO Gene

Compound -log(P) Hits PubMed IDs
iodide 88.7 122
thyroxine 87.7 103
iodine 84.4 65
sp(1-4) 81.8 7
triiodothyronine 80.3 63
genes like me logo Genes that share compounds with TPO: view

Transcripts for TPO Gene

Unigene Clusters for TPO Gene

Thyroid peroxidase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TPO Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b
SP1: - -
SP2: - -
SP3: - - -
SP4: - - -
SP5: - -
SP6:

Relevant External Links for TPO Gene

GeneLoc Exon Structure for
TPO
ECgene alternative splicing isoforms for
TPO

Expression for TPO Gene

mRNA expression in normal human tissues for TPO Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TPO Gene

This gene is overexpressed in Thyroid (48.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TPO Gene

SOURCE GeneReport for Unigene cluster for TPO Gene Hs.467554

genes like me logo Genes that share expressions with TPO: view

No data available for mRNA Expression by UniProt/SwissProt for TPO Gene

Orthologs for TPO Gene

This gene was present in the common ancestor of animals.

Orthologs for TPO Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TPO 35
  • 98.31 (n)
  • 98.11 (a)
cow
(Bos Taurus)
Mammalia TPO 35
  • 77.8 (n)
  • 75.35 (a)
dog
(Canis familiaris)
Mammalia TPO 35
  • 76.64 (n)
  • 71.51 (a)
TPO 36
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tpo 35
  • 76.46 (n)
  • 74.59 (a)
Tpo 16
Tpo 36
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TPO 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TPO 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tpo 35
  • 76.91 (n)
  • 75.36 (a)
chicken
(Gallus gallus)
Aves TPO 35
  • 64.46 (n)
  • 65.09 (a)
TPO 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TPO 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tpo 35
  • 59.67 (n)
  • 59.33 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100331172 35
  • 53.51 (n)
  • 45.81 (a)
TPO 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Irc 36
  • 23 (a)
ManyToMany
CG6879 37
  • 33 (a)
CG6969 37
  • 33 (a)
CG10211 37
  • 33 (a)
CG5873 37
  • 34 (a)
pxt 37
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea F09F3.5 36
  • 25 (a)
ManyToMany
F09F3.5 37
  • 29 (a)
K10B4.1 37
  • 31 (a)
F49E12.1 37
  • 34 (a)
R08F11.7 37
  • 30 (a)
ZK430.8 37
  • 33 (a)
C46A5.4 37
  • 32 (a)
C16C8.2 37
  • 34 (a)
F32A5.2a 37
  • 35 (a)
F32A5.2b 37
  • 35 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14230 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToOne
Species with no ortholog for TPO:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TPO Gene

ENSEMBL:
Gene Tree for TPO (if available)
TreeFam:
Gene Tree for TPO (if available)

Paralogs for TPO Gene

Paralogs for TPO Gene

genes like me logo Genes that share paralogs with TPO: view

Variants for TPO Gene

Sequence variations from dbSNP and Humsavar for TPO Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs732608 -- 1,496,127(+) TTCCC(C/T)GAAGA reference, synonymous-codon, nc-transcript-variant
rs732609 - 1,496,155(+) GCATC(A/C/G)CTGGC reference, missense, nc-transcript-variant
rs867983 -- 1,496,893(-) CCCCA(A/G)ATTGC intron-variant
rs938327 -- 1,488,297(+) TCTGT(A/G)TCTGG intron-variant
rs938328 -- 1,504,457(-) GTCGG(A/G)TGCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TPO Gene

Variant ID Type Subtype PubMed ID
nsv873559 CNV Gain 21882294
nsv468916 CNV Gain 19166990
nsv2567 CNV Insertion 18451855
esv2719234 CNV Deletion 23290073
esv1053095 CNV Deletion 17803354
esv1496362 CNV Insertion 17803354
nsv527311 CNV Gain 19592680
nsv818900 CNV Gain 17921354
esv2719235 CNV Deletion 23290073
esv8113 CNV Loss 19470904
esv2719236 CNV Deletion 23290073
esv2719237 CNV Deletion 23290073
dgv1138e1 CNV Complex 17122850
esv35100 CNV Gain 17911159
nsv873560 CNV Gain 21882294
esv2719238 CNV Deletion 23290073
esv2743352 CNV Deletion 23290073
nsv833204 CNV Gain 17160897
nsv511760 CNV Loss 21212237
nsv9269 CNV Gain 18304495
esv2719240 CNV Deletion 23290073
esv2719241 CNV Deletion 23290073
esv2719242 CNV Deletion 23290073
esv2719243 CNV Deletion 23290073
esv2719244 CNV Deletion 23290073
esv2719245 CNV Deletion 23290073
esv2719246 CNV Deletion 23290073
esv1516032 CNV Deletion 17803354
esv2719247 CNV Deletion 23290073
nsv525619 CNV Loss 19592680
dgv4040n71 CNV Loss 21882294
esv2719248 CNV Deletion 23290073
esv2643071 CNV Deletion 19546169
nsv511761 CNV Loss 21212237
dgv600e201 CNV Deletion 23290073
esv2719252 CNV Deletion 23290073
nsv214173 CNV Loss 16902084
esv22106 CNV Gain 19812545
esv2719254 CNV Deletion 23290073
esv2719255 CNV Deletion 23290073
esv1641412 CNV Deletion 17803354
esv2719256 CNV Deletion 23290073
nsv2568 CNV Insertion 18451855
esv272127 CNV Insertion 20981092
esv274018 CNV Insertion 20981092
nsv827931 CNV Gain 20364138
nsv873562 CNV Loss 21882294
esv2719257 CNV Deletion 23290073
esv2719258 CNV Deletion 23290073
esv27443 CNV Gain 19812545
esv1010288 CNV Deletion 20482838
esv1471512 CNV Deletion 17803354
esv2719259 CNV Deletion 23290073
nsv214904 CNV Loss 16902084
esv2719260 CNV Deletion 23290073
esv2719261 CNV Deletion 23290073
nsv527538 CNV Loss 19592680
esv2719263 CNV Deletion 23290073
nsv873564 CNV Gain 21882294
esv2371250 CNV Deletion 18987734
esv2719264 CNV Deletion 23290073
nsv873565 CNV Loss 21882294
nsv508790 CNV Insertion 20534489
esv2719265 CNV Deletion 23290073
esv1002938 CNV Insertion 20482838
dgv601e201 CNV Deletion 23290073
nsv511195 CNV Loss 21212237
dgv603n67 CNV Loss 20364138
esv2719267 CNV Deletion 23290073
esv24515 CNV Gain+Loss 19812545
nsv821156 CNV Deletion 20802225
nsv214040 CNV Loss 16902084
esv3911 CNV Deletion 18987735
esv2664648 CNV Deletion 23128226
esv2719269 CNV Deletion 23290073
esv2719270 CNV Deletion 23290073
esv2719271 CNV Deletion 23290073
esv2719272 CNV Deletion 23290073
esv2743204 CNV Deletion 23290073
esv2719274 CNV Deletion 23290073
dgv602e201 CNV Deletion 23290073
esv2598362 CNV Loss 19546169
dgv603e201 CNV Deletion 23290073
esv2719279 CNV Deletion 23290073
esv2042950 CNV Deletion 18987734
esv4097 CNV Duplication 18987735
esv1747962 CNV Deletion 17803354
esv8957 CNV Loss 19470904
dgv604e201 CNV Deletion 23290073
esv2719283 CNV Deletion 23290073
dgv605e201 CNV Deletion 23290073
nsv215163 CNV Insertion 16902084
esv4834 CNV Deletion 18987735
esv1006306 CNV Gain 20482838
esv2719288 CNV Deletion 23290073
esv2719289 CNV Deletion 23290073
esv2719290 CNV Deletion 23290073
nsv2569 CNV Insertion 18451855
esv2719291 CNV Deletion 23290073
esv999851 CNV Gain 20482838
dgv604n67 CNV Loss 20364138
dgv605n67 CNV Loss 20364138
esv2670872 CNV Deletion 23128226
esv2719292 CNV Deletion 23290073
esv2743205 CNV Deletion 23290073
esv1981245 CNV Deletion 18987734

Relevant External Links for TPO Gene

HapMap Linkage Disequilibrium report
TPO
Human Gene Mutation Database (HGMD)
TPO

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TPO Gene

Disorders for TPO Gene

(1) OMIM Diseases for TPO Gene (606765)

UniProtKB/Swiss-Prot

PERT_HUMAN
  • Note=An alternative splicing in the thyroperoxidase mRNA can cause Graves disease.
  • Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]: A disorder due to defective conversion of accumulated iodide to organically bound iodine. The iodide organification defect can be partial or complete. {ECO:0000269 PubMed:10084596, ECO:0000269 PubMed:10468986, ECO:0000269 PubMed:11061528, ECO:0000269 PubMed:11415848, ECO:0000269 PubMed:11874711, ECO:0000269 PubMed:11916616, ECO:0000269 PubMed:12213873, ECO:0000269 PubMed:12490071, ECO:0000269 PubMed:12843174, ECO:0000269 PubMed:12864797, ECO:0000269 PubMed:12938097, ECO:0000269 PubMed:16284446, ECO:0000269 PubMed:16684826, ECO:0000269 PubMed:7550241, ECO:0000269 PubMed:9024270, ECO:0000269 PubMed:9924196}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(92) Novoseek inferred disease relationships for TPO Gene

Disease -log(P) Hits PubMed IDs
autoimmune thyroid disease 96.2 123
hashimotos thyroiditis 92 83
thyroid dysfunction postpartum 91.4 12
dysfunction thyroid 91.3 19
graves disease 91.3 89

Genatlas disease for TPO Gene

goiter (organification defect IIA)

Relevant External Links for TPO

Genetic Association Database (GAD)
TPO
Human Genome Epidemiology (HuGE) Navigator
TPO
genes like me logo Genes that share disorders with TPO: view

Publications for TPO Gene

  1. Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis. (PMID: 7550241) Bikker H. … de Vijlder J.J.M. (Hum. Mutat. 1995) 3 4 23
  2. Evidence for an alternate splicing in the thyroperoxidase messenger from patients with Graves' disease. (PMID: 2383265) Zanelli E. … Malthiery Y. (Biochem. Biophys. Res. Commun. 1990) 3 4 23
  3. Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects. (PMID: 9024270) Bikker H. … De Vijlder J.J.M. (J. Clin. Endocrinol. Metab. 1997) 3 4 23
  4. Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. (PMID: 10084596) Pannain S. … Refetoff S. (J. Clin. Endocrinol. Metab. 1999) 3 4 23
  5. A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect. (PMID: 9924196) Kotani T. … Ohtaki S. (J. Endocrinol. 1999) 3 4 23

Products for TPO Gene

Sources for TPO Gene

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